ClinVar

NM_005732.4(RAD50):c.1930A>G (p.Arg644Gly)

Gene:

RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

• Chr5: 132595005 (on Assembly GRCh38)
• Chr5: 131930697 (on Assembly GRCh37)

Preferred name:

NM_005732.4(RAD50):c.1930A>G (p.Arg644Gly)

HGVS:

• NC_000005.10:g.132595005A>G
• NG_021151.2:g.43029A>G
• NM_005732.4:c.1930A>GMANE SELECT
• NP_005723.2:p.Arg644Gly
• LRG_312t1:c.1930A>G
• LRG_312:g.43029A>G
• LRG_312p1:p.Arg644Gly
• NC_000005.9:g.131930697A>G
• NG_021151.1:g.43082A>G
• NM_005732.3:c.1930A>G

This HGVS expression did not pass validation

Protein change:

R644G

Links:

dbSNP: rs876659631

NCBI 1000 Genomes Browser:

rs876659631

Molecular consequence:

• NM_005732.4:c.1930A>G - missense variant - [Sequence Ontology: SO:0001583]